Natural History Study for Patients With Nemaline Myopathy in Spain

Natural History Study for Patients With Nemaline Myopathy in Spain

The objective of this natural history study is to comprehensively characterize the disease progression and clinical features of nemaline myopathies. The study aims to establish a well-defined cohort of patients in Spain, enabling long-term follow-up and facilitating recruitment for future clinical trials.

The aims of the study are:

• Identify the specific genes and mutations responsible for NM in Spain.

• Define the in-depth phenotyping of NM and the phenotype-genotype relationship.

• Characterize the natural history of NM through the systematic collection of clinical (retrospective and prospective data), functional, and respiratory data in diagnosed patients in order to:

  • Describe the progression of the disease without disease-modifying therapies.
  • Identify reliable biomarkers and outcome measures for future clinical trials.
  • Align the national protocol with international efforts to generate comparable data.

Inclusion Criteria:

• Patients with a confirmed clinical and genetic diagnosis of MN (mutations in ACTA1, NEB, TPM2, TPM3, KBTBD13, CFL2, KLHL40, KLHL41, LMOD3, MYPN, TNNT1, TNNT3), or under discussion if they only have a compatible biopsy.
• Signed informed consent by the patient or Legal Authority Responsible, and/or assent by the subject (in pediatric population).